N28D (p.Asn28Asp) variant of SMC3 (Q9UQE7)
N28D (p.Asn28Asp) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N28D (p.Asn28Asp) variant details
- p.Asn28Asp
- gnomAD 10-110569004-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available